250th Peer-reviewed Publication Documents the Success of 454 Sequencing
News Sep 24, 2008
454 Life Sciences, a Roche company has announced the publication of the 250th peer-reviewed study using the Genome Sequencer System.
Researchers are taking advantage of the accuracy and long reads that the Genome Sequencer FLX provides to generate high quality, biologically relevant results. These results are yielding breakthrough publications, giving 454 Sequencing the publication rate of any next-generation sequencing technology, with over 80 total publications in the second and third quarter of 2008.
The studies span a diverse group of sequencing applications: 82 whole genome sequencing papers including de novo sequencing and re-sequencing for comparative genomics; 54 small RNA studies; 37 papers in the fast growing field of metagenomics; 27 studies in transcriptome profiling, including whole transcriptome assembly and expression profiling; 13 studies examining chromosome structure and epigenetics; 10 studies in the new field of ultra-deep sequencing for rare variant detection; 11 studies examining ancient DNA.
The remaining papers focus on the technology and informatics of the 454 Sequencing System. The diverse applications demonstrate the power of the 454 Sequencing System to tackle important areas of research, including fields that traditionally could not be addressed by sequencing.
The 250 peer-reviewed publications represents groundbreaking research, with many studies appearing in top tier journals, including: 20 papers in Nature, 13 papers in Science, 6 papers in Cell, 20 papers in Genome Research, and 24 papers in The Proceeding of the National Academy of Sciences, USA.
The studies published to date come from diverse research fields, such as cancer research, infectious diseases research, drug discovery, marine biology, anthropology, and paleontology. The 250 papers are complemented by numerous review articles that explore the current uses and future potential of 454 Sequencing.
A number of key publications in one week extended the total count over 250. Two of these studies titled “Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers” and “Subclonal phylogenetic structures in cancer revealed by ultra-deep sequencing” highlight the ability of the GS FLX System to characterize genetic variation in a Disease Associated Region and to identify low frequency somatic mutations in cancer samples.
The first study, performed by researchers at the National Cancer Institute (USA), employed standard shotgun sequencing of a targeted genomic region to identify heterozygotic variation associated with cancers.
The second study, from researchers at the Wellcome Trust Sanger Institute (UK), used 454 ultra-deep amplicon sequencing to detect novel, rare variants, including single-nucleotide polymorphisms (SNPs), insertion, and deletions in the Ig heavy chain locus of multiple B-cell chronic lymphoma leukemia samples.
In a new study in cells, University of Illinois researchers have adapted CRISPR gene-editing technology to cause the cell’s internal machinery to skip over a small portion of a gene when transcribing it into a template for protein building. This gives researchers a way not only to eliminate a mutated gene sequence, but to influence how the gene is expressed and regulated.